Cappuccio, Gerarda
Sayou, Camille
Tanno, Pauline Le
Tisserant, Emilie
Bruel, Ange-Line
Kennani, Sara El
Sá, Joaquim
Low, Karen J.
Dias, Cristina
Havlovicová, Markéta
Hančárová, Miroslava
Eichler, Evan E.
Devillard, Françoise
Moutton, Sébastien
Van-Gils, Julien
Dubourg, Christèle
Odent, Sylvie
Gerard, Bénédicte
Piton, Amélie
Yamamoto, Toshiyuki
Okamoto, Nobuhiko
Firth, Helen
Metcalfe, Kay
Moh, Anna
Chapman, Kimberly A.
Aref-Eshghi, Erfan
Kerkhof, Jennifer
Torella, Annalaura
Nigro, Vincenzo
Perrin, Laurence
Piard, Juliette
Le Guyader, Gwenaël
Jouan, Thibaud
Thauvin-Robinet, Christel
Duffourd, Yannis
George-Abraham, Jaya K.
Buchanan, Catherine A.
Williams, Denise
Kini, Usha
Wilson, Kate
Nigro, Vincenzo
Brunetti-Pierri, Nicola
Casari, Giorgio
Cappuccio, Gerarda
Torella, Annalaura
Pinelli, Michele
Musacchia, Francesco
Mutarelli, Margherita
Carrella, Diego
Vitiello, Giuseppina
Capra, Valeria
Parenti, Giancarlo
Leuzzi, Vincenzo
Selicorni, Angelo
Maitz, Silvia
Banfi, Sandro
Zollino, Marcella
Montomoli, Mario
Milani, Donatelli
Romano, Corrado
Tummolo, Albina
De Brasi, Daniele
Coppola, Antonietta
Santoro, Claudia
Peron, Angela
Pantaleoni, Chiara
Castello, Raffaele
D’Arrigo, Stefano
Sousa, Sérgio B.
Hennekam, Raoul C.M.
Sadikovic, Bekim
Thevenon, Julien
Govin, Jérôme
Vitobello, Antonio
Brunetti-Pierri, Nicola http://orcid.org/0000-0002-6895-8819
Funding for this research was provided by:
Fondazione Telethon (GSP15001)
Wellcome Trust (209568/Z/17/Z)
This article is maintained by: Elsevier
Article Title: De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-020-0898-y
Content Type: article
Copyright: © 2020, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics